PMID: 17656682

Guilbault C, De Sanctis JB, Wojewodka G, Saeed Z, Lachance C, Skinner TA, Vilela RM, Kubow S, Lands LC, Hajduch M, Matouk E, Radzioch D
Fenretinide corrects newly found ceramide deficiency in cystic fibrosis.
Am J Respir Cell Mol Biol. 2008 Jan;38(1):47-56. Epub 2007 Jul 26., [PubMed]
Sentences
No. Mutations Sentence Comment
179 ABCC7 p.Leu206Trp
X
ABCC7 p.Leu206Trp 17656682:179:2
status: NEW
view ABCC7 p.Leu206Trp details
T/L206W CF (n 5 10) 50† 37.2 6 4.2 58.5 6 3.0 166.7 6 3.4 21.0 6 1.0 HC (n 5 10)‡ 50† 34.7 6 4.2 70.1 6 4.3 166.2 6 3.4 25.4 6 1.3 Definition of abbreviations: BMI, body mass index; CF, cystic fibrosis; HC, healthy control. Login to comment